Artigo
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome
Fecha
2002-06-01Registro en:
Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 76, n. 2, p. 145-147, 2002.
1096-7192
10.1016/S1096-7192(02)00031-8
WOS:000176747600008
Autor
Hart, P. S.
Pallos, D.
Zhang, Y.
Sanchez, J.
Kavamura, I
Brunoni, D.
Hart, T. C.
Institución
Resumen
Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This family segregates a novel PLS-related mutation, p.W185X, that is associated with a complete loss of enzymatic activity. (C) 2002 Elsevier Science (USA). All rights reserved.